AUTUMN 2019Quarterly Newsletter

SWAN UK UPDATE

We hope that you’ve all had a wonderful summer and are enjoying the start of autumn. This newsletter brings you some snapshots of what we’ve been up to over the past few months – we hope that you enjoy reading it!

There are lots of exciting new things happening at SWAN UK, make sure you check out the SWAN UK Developments section to find out more about the newly-formed SWAN UK Council and the soon to be introduced Local Moderator role. Read the Fundraising Update to meet the newest member of the SWAN UK office team, Fundraising Officer Parisa.

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Parisa, our new Fundraising Officer.

Completing the inflatable 5K for SWAN UK!

Hello, and welcome to the SWAN UK Autumn 2019 Newsletter! My name is Izzy, and I am the Communications and Support Officer here at SWAN UK.

Changes to fundingAfter three years our Big Lottery Fund grant has finally come to an end. At the moment we’re busy applying for new grants, but until we secure one, unfortunately we are going to have to reduce the number of information events and family days out that we run.

At this point, fundraising is now more important than ever in helping us continue to support as many UK families with undiagnosed genetic conditions as we can. If you’re interested in fundraising for SWAN UK then get in touch and let us know – we’re more than happy to answer any questions and do what we can to support you! You can contact the SWAN UK fundraising team at: fundraising@undiagnosed.org.uk.

Up and coming eventsKiddy Winx stay and play, Rotherham: 13 October, 10 November, 15 December. Warrington Sensory Centre stay and play: 20 October, 23 November, 21 December.Hop, Skip and Jump, stay and play, Bristol: 6 October, 1 December. Hadrian School, rebound session, Newcastle: 20 October.Alan Shearer Centre, Newcastle, stay and play: 16 November. Christmas Party, Hadrian School, Newcastle: 15 December.

If you have any questions or would like to find out more about anything in this newsletter, get in touch with us: info@undiagnosed.org.uk.

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SWAN UK VISITS EDINBURGH ZOO DREAMNIGHT

Finlay telling Lauren and his brother Oliver about holding a giant snail!

Finlay and his family chatting with the SWAN UK team

By SWAN UK member Finlay.

Please introduce yourself and your family My name is Finlay Barker and I am 12 years old and I live at home with my mum and Dad (Ruth and William Barker), my big brother Eoin who is 14 and my little brother Oliver who is five.

What SWAN UK event did you attend?I attended the Edinburgh Zoo Dreamnight with my mum and dad and my brothers Eoin and Oliver.

How was the day? It was really good fun. We saw a lot of animals and I enjoyed holding a giant snail. I also enjoyed making the lego figures in the lego tent and spying all of the lego creatures throughout the zoo. I liked seeing the tigers and monkeys and the wallaby.

How likely are you to attend future SWAN UK family events?I would come back to the SWAN UK events as it was good fun and good to meet other people and something I would enjoy.

Do you meet other SWAN UK families? What did this mean to you?We met a few families that are our friends that we met through SWAN UK. It is nice to meet other kids out there who have similar conditions and it is good to talk to other kids too.

What impact does having an undiagnosed condition have on you?It impacts me because I find it hard to know what is wrong with me and how much I can achieve. It would be good to have a diagnosis but we are still waiting.

How did you feel after attending this event?I felt happy and I had lots of fun seeing all the animals and meeting new people and friends.

What does SWAN UK mean to you?They are a good organisation and have given lots of opportunities to members of SWAN UK. They give good support to members as well.

Do you want to find out what SWAN UK family events are being held near you? Email info@undiagnosed.org.uk or visit your SWAN UK Local Network Facebook Group.

Hallo! We are the Daveys – Richard and Alex (me), our two feisty daughters Jackie (seven) and Caitlin (three) and our SWAN, Benjamin, who is five.

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Benji with his dad and sisters

Benji

Benjamin (Benji) is a very content, loving little boy. He loves watching lights and shadows, such as sitting under a tree watching the leaves move against the sky. He also enjoys the feeling of air on his face and he loves riding in the car with the window open, or with rain pattering on the roof. He likes music, particularly bells and jingly-sort of noises. He loves water: swimming, hydrotherapy, bath-time. Oh, and he is a total flirt, with a smile that would charm the pants off anyone.

SWAN lifeBenji has been a SWAN (syndrome without a name) child from three weeks before his birth, when anomalies in his brain were detected.

Within the space of 24 hours we went from an uncomplicated pregnancy to MRI scans, consultants, and palliative care plans, and we were offered the option to terminate the pregnancy.

FAMILY STORY: ALEX AND BENJI

I realised then that life was going to be very different for our whole family, whatever we decided to do.

Benji is now five and doing great! He has microlissencephaly which means his brain is very small and very smooth. This creates several challenges for Benji. His motor control is limited and he has severe reflux (his stomach contents come the wrong way out of his stomach and up towards his mouth) and an unsafe swallow so any liquid that is in his mouth tends to go into his lungs and cause chest infections. Benji is epileptic and visually impaired. He is on more than a dozen different medications and has twice-daily chest physio and nebulisers to keep his chest clear. He is also unable to regulate his own temperature meaning he really struggles in hot and cold weathe. Similarly he cannot control his sleep cycles and tends to follow a different sleep pattern from the rest of the family.

Benji is non-verbal and we have really struggled to find ways to communicate with and understand him. Although he cannot yet use his hands to work a switch, he has worked so hard at his head and trunk control and now has the ability to turn his head to either side to switch a switch with his cheek. This means he can now make a choice between two options, and we can work on this to develop a more complex, step-by-step communication method. This is totally awesome news and represents a huge amount of effort on the part of Benji, his teachers, support workers and occupational therapists.

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Benji on holiday

Being undiagnosed

To try and find the genetic cause of his disabilities, Benji is on the Deciphering Developmental Disorders (DDD) project and the Scottish Genomes Project (the Scottish arm of the 100,000 Genome Project). Our main reason for undergoing testing was to find out the risks of any future children having the same condition as Benji. However, the results took too long for us and we went ahead and had his little sister anyway! Because we had no diagnosis,this pregnancy was an incredibly stressful time for us. I really hope that we will find out that Benji has a de novo genetic change, and therefore his sisters will not be carriers of any ‘faulty’ genes and won’t have to worry about their own children inheriting the same condition.

A diagnosis would also help us to plan for the future. Being undiagnosed, we don’t know what Benji’s long-term prognosis might be. We don’t know whether to spend our time and energy planning for the long-term (trust funds, guardianship, care plans, and so on) or to use that time making memories in case we don’t have very long with our son.

A diagnosis would make it so much easier to explain Benji’s condition to people. It would make it easier to fill in forms, and easier to get funding from organisations that need a ‘diagnosis’ box filled in before they will even look at your application. A diagnosis would mean the chance to find other people with the same condition as Benji, learn from them, share our stories, and feel less alone in the world.

Finding SWAN UK

Fortunately, about a year after Benji was born we discovered SWAN UK. Those early days were a complete blur of caring for Benji 24-7 whilst also looking after his big sister who was only one year old when he was born.

I remember feeling completely alone and ill-equipped as we struggled to make life-changing medical decisions with no-one to turn to for advice or friendship.

Now, the SWAN UK family provides us with support, understanding, answers to stupid questions, advice on serious questions, offers of help when stuck, a place to offload equipment we no longer need and emotions we can’t hold in, family days out, new local friends, a feeling of belonging, … oh, and balloons! Benji loves the balloons!

Looking backWhen Benji was first born I was scared, confused, and angry that I had been thrown into all these new roles of doctor, nurse, carer, teacher, advocate, without any training whatsoever. I felt very guilty about the impact having a disabled child would have on our family, especially our daughter Jackie. I didn’t know how to even explain Benji’s condition or what was happening to us. I felt very alone. Now, I feel I have grown into all those roles and relish them! I feel capable of fighting for whatever Benji needs, and able to help and advise others in similar situations. I relish the changes he has brought to our lives, and I am immensely grateful for what he has taught me. I have made new friends and have a new, more inclusive outlook on life. I can’t imagine life without Benji.

Looking forwardI know that my future will never be the same as I will continue to campaign, advocate, and work in my community to make it more accessible and inclusive for everyone. If we lose Benji, there will be an enormous hole in our lives, but I’m so glad we had the privilege to know and love him and to join the SWAN UK family. Learning from other parents and from disabled people has been the best thing about the journey and has totally changed my outlook on life.

SWAN UK is my tribe. It’s my friends and family, and it’s where we belong.

We look out for each other and help each other both virtually and physically. Although we came into SWAN UK through my son’s lack of a diagnosis, I know that even if we get a diagnosis, we’ll always be a part of SWAN UK.

Would you like to share your SWAN UK story and help raise awareness of undiagnosed genetic conditions? Email: info@undiagnosed.org.uk.

NEWS FROM SCOTLAND

NEWS FROM WALES

Hi, I’m Natalie, Genetic Alliance UK’s Policy and Engagement Manager in Scotland.

Genetic Alliance UK’s Rare Resources RoadshowIn March 2019, Genetic Alliance UK published ‘Rare Resources: Scotland’ – a toolkit of information for families with a child who may have a rare, genetic or undiagnosed condition. The toolkit was developed to address the gap in information provided to families in the early stages of their journey towards a diagnosis and beyond. The toolkit is full of practical information, top tips and links to reliable sources of information and support.

We would like to thank the many SWAN UK families that attended our workshops and contributed to the development of the Rare Resources Scotland Toolkit – which was designed for families, by families.

We are also pleased to announce that the next stage

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of this begins in Autumn as we take Rare Resources on the road across Scotland to promote awareness of rare, genetic and undiagnosed conditions and build regional networks of families, patient organisations, local support organisations and health and social care professionals. We will be hosting a programme of information events and we hope that this will be an opportunity for SWAN UK families to find out more about local support available to them.

We are really keen to hear from you if you would like to know more about these events which will take place across Scotland, starting with an event in the Highlands this Autumn.

Please email natalie@geneticalliance.org.uk if you are interested in finding out more about upcoming Rare Resources Roadshow events and building a regional rare, genetic and undiagnosed conditions network in your area.

Hi, I’m Emma, Genetic Alliance UK’s Policy and Engagement Manager for Wales.

Annual Rare Disease Patient Network meeting – 10 October The fifth annual Welsh Rare Disease Patient Network meeting is taking place in October. Members of the SWAN UK community are invited to join us for a day of talks from patients and professionals. Topics will include how patients and families will benefit from new advances in genomics and progress implementing the Genomics for Precision Medicine Strategy, as well as a talk on how gene and cell therapy is offering hope to patients and families affected by rare conditions. The charity Gofal will present about emotional wellbeing and strategies for keeping well when you or a family member are affected by a rare disease. Wales Gene Park will be launching its new portal focused on bringing together projects involving rare and genetic research. Please sign up to attend the event via the Eventbrite page: bit.ly/5th-annual-rare-disease-patient-network.

Genomics Cafes coming to a coffee shop near youA new initiative set up in collaboration with the Wales Gene Park, genomics cafes are informal meetings in coffee shops across Wales. They aim to engage with patients, families and members of the public about advances in genomic medicine but also provide a friendly relaxed environment to meet with others and to share thoughts about how patients and families can be better supported. The Cafes will have guest speakers, opportunities to hear about new research and initiatives and provide a chance to shape work in this evolving area.

Dates for upcoming meetings are:5 November - Newport7 November - Swansea12 November - Wrexham2 December - Cardiff5 December - Carmarthen

If you would like to find out more, get in touch with Emma: emma@geneticalliance.org.uk.

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GENETIC ALLIANCE UK: ERNS CONFERENCE

Hi, I’m Tom, and I’m the Policy Analyst at Genetic Alliance UK.

Amy, Senior Researcher at Genetic Alliance UK

of ERNs, Genetic Alliance UK have been campaigning for the country’s membership to be protected. For our #ProtectERNs campaign we have written a statement calling for the UK to continue to be part of ERNs and have asked people to sign a petition to show their support.

The conference was attended by a mixture of representatives from European Patient Advocacy Groups (ePAGs) which are patient groups connected to the ERNs, clinicians connected to the different ERNs, and policy makers. The event was a great chance to network and gave us the opportunity to focus on the future of ERNs.

We had some great discussions about how rare disease clinical networks can and should make patients’ lives easier, and what these networks might look like post-Brexit if the UK is no longer able to be a part of ERNs.

Overall, the conference concluded that the ideal senario would be for the UK to remain part of the existing European Reference Networks. Genetic Alliance UK will continue to campaign to protect the UK’s future involvement in ERNs.

Want to find out more about ERNs and the Genetic Alliance UK ERN Conference? You can get in touch with Tom at: tom.billins@geneticalliance.org.uk, or visit the Genetic Alliance UK campaign website protect-erns.eu.

Back in September, Genetic Alliance UK held a conference to discuss the future of European Reference Networks (ERNs).

ERNs are virtual healthcare networks that are spread across Europe. They put clinicians from different European countries in touch with each other, so they can share their knowledge and expertise on rare conditions.

There are currently 24 different ERNs grouped around condition type. ERNs are important because sharing knowledge and information helps to diagnose and treat patients with rare conditions. They are also really useful when it comes to organising research projects across different countries and developing new medical technologies and medicines.

However, with Brexit on the horizon, no one knows whether clinicians from the UK will be able to continue being part of these networks. With the UK is set to leave the EU with no agreement in place for us to remain part

Tom

Jayne, CEO of Genetic Alliance UK speaking at the conference

SWAN UK COUNCIL

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Some of the SWAN UK Council and Lauren (Marian, Louise, Martin, Lauren, Briony and Maura).

Over the past few months we’ve been working hard on an exciting new project – the first ever SWAN UK council! The SWAN UK council will act as an advisory panel that represents the SWAN UK community. The council will be involved in helping to strengthen and build the existing SWAN UK network and will be part of the wider governing body of Genetic Alliance UK, the charity that runs SWAN UK.

The members of the council have been carefully chosen to try and make sure that lots of different aspects of the SWAN UK community are represented. Currently the council is made up of seven SWAN UK members (who we’ll introduce you to on the next page), including the Council Chair and Parent Rep for the South West, Louise James.

The council had their first ever meeting back in September. It was the first time most of the council members met each other and everyone had lots to talk about.

One of the main topics of dicussion was making sure that the SWAN UK community was represented as well as possible, and where representation currently needs to be improved. The council recognised that they needed more members to improve the level of diversity and representation on the panel.

For the first year or so, the council will mainly be working on projects behind the scenes. One bit of background work they started at the first council meeting was reviewing different ideas of how we can make next year's Undiagnosed Children's Day even more amazing than before!

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Let's meet the council members...

LouiseHi, I’m Louise. It’s such a privilege to be part of this exciting new project knowing it will help develop the support given to families just like mine.

MartinHi, I’m Martin. Josh is my SWAN and he’s 16 years old. He has puf60 syndrome. I’m so excited to be part of the new council, to help shape the future of SWAN UK going forward, and to be able to advise and support as many SWANs and parents as we can.

MarianI'm Marian, mum to Joseph who is now 21! We joined SWAN UK when Joseph was tiny – now he is taller than me and has a moustache. He was diagnosed with KCNH1 disorder when he was 18. SWAN UK has been, and continues to be, a great support to us and I am very happy to be part of this new stage in SWAN UK’s development.

BrionyHello, I’m Briony. My SWAN Indy is 11 years old. I am looking forward to joining the SWAN UK Council because I have always wanted to give something back to SWAN UK as they have helped me through the dark times and now it’s my time to help others.

Maura Hi, I'm Maura McCrystal and I live in

Draperstown, Northern Ireland, with hubby Ronan. Our SWAN Jack is 10, he's the youngest of five boys: John, 23; Ryan, 22; Shane, 20 and Ronan Jr, 17. I've been an active member of SWAN UK for more than eight years and I'm excited to be a member of the SWAN UK Council so I can bring some information and knowledge to all members of SWAN UK and especially our Northern Ireland group!

TonyaHi, my name is Tonya and I live in Colchester, Essex, with my fiancé Reece and our two daughters, Darcy aged five and our SWAN Ivy-Grace aged four. I’m super excited to be part of the SWAN UK council and to offer support to other families just beginning their undiagnosed journey! I was only 20 when I became a SWAN mum, so I believe I could be a massive support for the younger mums.

DemiHi I’m Demi and I live in South West Scotland with Ryan, who is 12 and his brother Matthew and sister Marlowe. I’ve worked with people with disabilities for 18 years and hope to use some of my skills to get more involved with SWAN UK and give back some of the support we’ve had from the group!

We’ll keep you updated on the progress of the SWAN UK council. Sometimes they may ask the SWAN UK community’s opinion on matters, so keep your eyes peeled for any posts or polls in our SWAN UK Facebook groups!

SWAN UK LOCAL MODERATORSWe have developed a brand new role to help us run our Local Network Facebook groups – Local Moderators. Local Moderators will be SWAN UK members who help strengthen the online activity in our smaller, local Facebook groups, by welcoming new members and helping to encourage conversation.

Our smaller Facebook groups are vital in making sure that all members, including those who aren’t currently active on the main Facebook group, are benefitting from the online support that is facilitated by SWAN UK. As the main SWAN UK group becomes bigger and

bigger we want to ensure that our members can also still benefit from accessing support in smaller, more intimate groups.

This voluntary role is perfect for any SWAN UK member who enjoys spending time on Facebook, is personable and feels comfortable reaching out to new people.

We will be releasing more information about the role and how to apply soon, so keep your eyes peeled. If you are eager to find out more, get in touch with Izzy at: info@undiagnosed.org.uk.

INTRODUCING FUNDRAISING OFFICER PARISA

Hi, my name is Parisa Rahim and I am Genetic Alliance UK (and SWAN UK’s) new Fundraising Officer.

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Can you tell us a bit about what your role involves?My role involves helping to organise the fundraising initiatives for Genetic Alliance UK, which includes Rare Disease UK and SWAN UK. This year we are going to work on some really exciting new community fundraising initiatives for SWAN UK!

What are you looking forward to most about your new role?I am very excited to meet our members and supporters, to hear about your stories and the positive changes that SWAN UK is bringing to you. I also cannot wait to see first-hand the positive impact that our work has on the lives of children and families affected by rare and undiagnosed conditions.

Can you tell us about a fundraising success story you have?When I was at university I helped organise a dinner to raise money for the Syrian Refugee Crisis. We raised a total of £1,500!

If you could live anywhere in the world, where would it be and why?I would have to say Mauritius. It has loads of amazing beaches, including one that was voted one of the top ten most beautiful beaches in the world!

Tell us an interesting fact about yourselfI had never heard of the Queen’s Garden Parties, and this year, I end up attending all of them.

What can’t you live without?My family and friends won’t like this, but it has to be pancakes!

If you want to have a chat with Parisa and find out more about fundraising for SWAN UK, email: fundraising@undiagnosed.org.uk.

Tell us about yourself Before I started in this role I worked at a law firm in London for two years, then moved on to working with an events and catering company where I helped plan the Queen’s Garden Parties at Buckingham Palace. Before that I studied Law at the University of Manchester and became very involved with student life. I was involved with the Diversity Scheme at university, acting as a mentor for students in sixth form who were the first ever members of their family to go to university. In my last year of university, I was elected President of Manchester University’s Law Society and I was responsible for raising funds for the biggest society on campus!

What most appealed to you about this role?After spending many weeks searching for the right role with the right charity, Genetic Alliance UK’s position as Fundraising Officer jumped out at me straight away. I was drawn to the role because it provided an opportunity to join an organisation that is closely connected with its members and supporters and which helps to better the lives of children with rare and undiagnosed conditions.

Parisa

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SWAN UK Christmas Cards 2019A big thank you to eight year old Eva for designing this year’s festive SWAN UK Christmas card!

This year’s SWAN UK Christmas card design

FUNDRAISING UPDATE

These fabulous Christmas cards will be available to buy on our website from the beginning of November. All proceeds will go to SWAN UK, so this Christmas you can put a smile on your friends and family’s faces, while also helping us continue to provide support to families affected by undiagnosed genetic conditions.

We’re looking to sell as many Christmas cards as we can this year, so if your child(ren) is at school or nursery, why not ask them if they’ll sell the cards on our behalf? If your school is interested in getting involved just let us know and our very own Christmas elves will send them some cards.

For more information about Christmas cards or to let us know your school is interested, get in touch with Parisa: fundraising@undiagnosed.org.uk.

NEW! SWAN UK SCHOOLS LEAFLET

Hi, I’m Jo, SWAN UK Parent Rep for Portsmouth.

For the past few months, I’ve been working alongside the SWAN UK team on a project looking at how we can help teachers and other school staff support children and families affected by undiagnosed genetic conditions. I’m pleased to announce that soon we will be launching an undiagnosed genetic conditions information leaflet, specifically designed for schools and teachers.

Before becoming a parent I worked as a SEN teacher. During my time as a teacher I never came across the concept of being undiagnosed and hadn’t given much thought as to why some children didn’t have a diagnosis, or were simply described as having global developmental delay. I think, like a lot of teachers, I prided myself on teaching children based on need and not diagnosis, which while in

itself isn’t a bad thing, can stop you from questioning the lack of a diagnosis or what challenges that might bring to the child and family.

By helping teachers to understand more about why some genetic conditions remain undiagnosed, how this can affect access to therapies and treatment and families’ experiences, we can improve the level of support families receive from schools. We’ll be sending out leaflets to schools during the Autumn term and are actively seeking opportunities to expand on the information in the leaflet by running training sessions for school staff.

If you would like a copy of our Schools Information Leaflet to share with your child’s school, contact: info@undiagnosed.org.uk. Want to find out more about the work we are planning with teachers and schools? Speak to Jo at: portsmouth@undiagnosed.org.uk.

+44 (0)20 7831 0883info@undiagnosed.org.ukundiagnosed.org.uk#undiagnosed

SWANchildrenUK

SWAN_UK

SWANchildrenUK

SWANchildrenUK

Genetic Alliance UKRegistered charity numbers: 1114195 & SC039299Registered company number: 05772999

SWAN UK (syndromes without a name) is a support network run by Genetic Alliance UK offering information and support to families of children and young adults with undiagnosed genetic conditions.

Genetic Alliance UK is the national charity working to improve the lives of patients and families affected by

all types of genetic conditions. We are an alliance of over 180 patient organisations.

Rare Disease UK is a multi-stakeholder campaign run by Genetic Alliance UK, working with the rare disease community and the UK’s health departments to effectively implement the UK Strategy for Rare Diseases.